Renal Tubular Dysgenesis malady

MalaCards: Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to gitelman syndrome and oligohydramnios. An important gene associated with Renal Tubular Dysgenesis is AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8)), and among its related pathways are ACE Inhibitor Pathway, Pharmacodynamics and Development_Angiotensin signaling via beta-Arrestin. The compounds emd 66684 and zd 7155 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are immune system and renal/urinary system.

OMIM: 267430

renal tubular dysgenesis 7 30 33 32 primitive renal tubule syndrome 30

renal tubular disorder 43 rtd 30

Diseases related to renal tubular dysgenesis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 167)

id	Related Disease	Score	Top Affiliating Genes
1	gitelman syndrome	28.7	AGT, REN
2	oligohydramnios	28.0	AGTR1, ACE, REN, AGT
3	ischemia	27.9	AGTR1, AGT, REN, ACE
4	diabetes mellitus	26.8	AGT, ACE, AGTR1, REN
5	meningococcal infection	12.9	AGT, AGTR1
6	familial hyperaldosteronism	12.8	AGTR1, REN
7	conn's syndrome	12.8	AGTR1, REN
8	cerebral aneurysms	12.7	AGTR1, REN
9	nephrogenic diabetes insipidus	12.7	AGTR1, REN
10	21-hydroxylase deficiency	12.7	REN, AGTR1
11	adrenal adenoma	12.7	REN, AGTR1
12	hypercalciuria	12.6	REN, AGTR1
13	acute mountain sickness	12.6	ACE, AGTR1
14	chronic rapidly progressive glomerulonephritis	12.6	AGTR1, ACE
15	systolic heart failure	12.6	AGT, ACE
16	focal segmental glomerulosclerosis	12.6	ACE, AGTR1
17	hyporeninemic hypoaldosteronism	12.6	REN, ACE
18	malignant hypertension	12.6	REN, ACE
19	nephrosclerosis	12.5	AGTR1, ACE
20	hypoaldosteronism	12.5	ACE, REN
21	renal hypertension	12.5	REN, ACE
22	focal glomerulosclerosis	12.5	REN, ACE
23	orthostatic hypotension	12.5	ACE, REN
24	hepatorenal syndrome	12.5	REN, ACE
25	subacute sclerosing panencephalitis	12.5	AGTR1, ACE
26	hypomagnesemia	12.5	ACE, REN
27	obstructive lung disease	12.5	REN, ACE
28	familial hypertrophic cardiomyopathy	12.5	ACE, AGTR1
29	adrenal hyperplasia	12.4	REN, AGTR1
30	cystinosis	12.4	ACE, REN
31	angioedema	12.4	AGT, ACE
32	polycystic kidney disease, autosomal dominant	12.4	ACE, REN
33	thrombophilia	12.4	ACE, AGT
34	postural orthostatic tachycardia syndrome	12.4	AGTR1, REN, AGT
35	hypokalemia	12.4	REN, ACE
36	arterial calcification	12.4	ACE, AGT
37	ovarian hyperstimulation syndrome	12.3	REN, ACE
38	adrenocortical carcinoma	12.3	REN, AGT, AGTR1
39	pre-eclampsia	12.3	AGT, REN, AGTR1
40	hyperuricemia	12.3	REN, ACE
41	pulmonary function	12.3	ACE, AGTR1
42	diabetic neuropathy	12.2	ACE, REN
43	posterior urethral valves	12.2	AGTR1, AGT, ACE
44	mitral valve disease	12.2	ACE, AGTR1, AGT
45	aortic coarctation	12.2	ACE, AGT, AGTR1
46	hypertensive heart disease	12.2	ACE, AGT, AGTR1
47	diastolic heart failure	12.2	AGTR1, AGT, ACE
48	ischemic optic neuropathy	12.2	ACE, AGT, AGTR1
49	diabetes, type 2	12.2	AGT, ACE, AGTR1
50	bartter disease	12.2	REN, AGT, AGTR1

Clinical features from OMIM: 267430

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to renal tubular dysgenesis:

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MGI Mouse Phenotypes related to renal tubular dysgenesis:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system phenotype	MP:0005387	8.0	ACE, REN, AGTR1, AGT
2	renal/urinary system phenotype	MP:0005367	7.9	AGTR1, AGT, ACE, REN
3	cardiovascular system phenotype	MP:0005385	7.7	REN, AGTR1, AGT, ACE

Articles related to renal tubular dysgenesis:

id	Title	Authors	Year	Affiliating Genes
1	A further case of renal tubular dysgenesis surviving the neonatal period. (18478260)	Uematsu M.... Tsuchiya S.	2009	ACE
2	Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. (16790508)	Lacoste M.... Gubler M.C.	2006	REN
3	Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (16116425)	Gribouval O.... Gubler M.-C.	2005	ACE, AGTR1, REN
4	Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. (9350819)	McFadden D.E.... Langlois S.	1997	ACE
5	Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. (8159624)	Landing B.H.... Turner M.	1994	ACE
6	Renal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system. (7994002)	Bernstein J.... Barajas L.	1994	REN

Genes related to renal tubular dysgenesis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11.1	Publications, Summaries
2	REN	renin	11.0	Publications
3	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications
4	AGTR1	angiotensin II receptor, type 1	11.0	Publications

Pathways related to renal tubular dysgenesis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	ACE Inhibitor Pathway, Pharmacodynamics34	10.1	AGTR1
2	Development_Angiotensin signaling via beta-Arrestin41	9.4	AGT, AGTR1
3	Cell adhesion_Integrin inside-out signaling41	9.4	AGT, AGTR1
4	Development_Angiotensin activation of ERK41	9.3	AGT, AGTR1
5	Development_Angiotensin signaling via PYK241	9.1	AGT, AGTR1
6	Renin-angiotensin system20	8.2	AGTR1, AGT, ACE, REN
7	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	8.1	ACE, AGT, AGTR1, REN
8	Renin-Angiotensin Pathway36	8.1	REN, AGT, ACE, AGTR1

Compounds related to renal tubular dysgenesis according to GeneDecks:

(show top 50)    (show all 87)

id	Compound	Score	Top Affiliating Genes
1	emd 6668442	9.7	AGT, AGTR1
2	zd 7155 hydrochloride42	9.7	AGTR1, AGT
3	cv 1197432	9.4	AGTR1, AGT
4	temocaprilat32	9.3	ACE, AGTR1
5	sampatrilat32	9.2	REN, ACE
6	ibopamine32	9.1	ACE, REN
7	pd12331932	9.0	ACE, AGTR1, AGT
8	alacepril32	8.9	ACE, REN
9	remikiren32 9 9	10.9	ACE, AGT, REN
10	lacidipine32	8.9	AGTR1, ACE, REN
11	trandolapril32 9 9	10.9	AGTR1, ACE, REN
12	cilazapril32 9 9	10.9	ACE, AGTR1, REN
13	fosinopril32 9 9	10.9	ACE, AGTR1, REN
14	eplerenone32 42 9 9	11.9	REN, AGTR1, ACE
15	enalaprilat32	8.9	ACE, REN, AGT
16	quinapril32 9 9	10.9	AGTR1, ACE, REN
17	ramipril32 9 9	10.9	ACE, REN, AGTR1
18	thiazide32	8.8	REN, ACE, AGTR1
19	hydralazine32 34 9 9	11.8	AGTR1, REN, ACE
20	felodipine32 9 9	10.8	AGTR1, ACE, REN
21	dihydropyridine32	8.8	REN, ACE, AGTR1
22	carvedilol32 34 9 9	11.8	ACE, AGTR1, REN
23	spironolactone32 42 34 9 9	12.8	REN, AGTR1, ACE
24	furosemide32 42 34 9 18 9	13.8	ACE, REN, AGTR1
25	digoxin32 42 34 9 18 9	13.8	AGTR1, ACE, REN
26	perindoprilat32	8.7	REN, ACE
27	aliskiren32 9 9	10.4	AGTR1, REN, ACE, AGT
28	saralasin32 42	9.4	AGTR1, REN, ACE, AGT
29	eprosartan32 9 9	10.4	REN, ACE, AGT, AGTR1
30	benazepril32 9 9	10.4	ACE, AGT, REN, AGTR1
31	olmesartan32 9 9	10.4	AGTR1, AGT, ACE, REN
32	lisinopril32 9 18 9	11.4	AGTR1, AGT, ACE, REN
33	chymostatin32	8.4	REN, ACE, AGTR1, AGT
34	perindopril32 34 9 9	11.4	ACE, AGTR1, REN, AGT
35	valsartan32 42 9 9	11.4	ACE, AGT, REN, AGTR1
36	telmisartan32 9 9	10.4	REN, AGT, ACE, AGTR1
37	irbesartan32 9 9	10.4	AGTR1, AGT, ACE, REN
38	hydrochlorothiazide32 34 9 18 9	12.4	REN, ACE, AGTR1, AGT
39	candesartan32 9 9	10.4	AGT, AGTR1, ACE, REN
40	enalapril32 9 9	10.4	ACE, AGT, AGTR1, REN
41	amlodipine32 9 18 9	11.4	REN, ACE, AGT, AGTR1
42	captopril32 42 9 9	11.4	AGTR1, AGT, ACE, REN
43	ang ii32	8.4	REN, AGTR1, ACE, AGT
44	losartan32 34 9 9	11.4	AGT, REN, AGTR1, ACE
45	nifedipine32 9 9	10.4	REN, ACE, AGT, AGTR1
46	prostacyclin32	8.3	REN, AGT, ACE, AGTR1
47	norepinephrine32 9 18 9	11.3	REN, ACE, AGTR1, AGT
48	potassium32 9 18 9	11.2	AGT, ACE, AGTR1, REN
49	sodium32 18	9.1	AGTR1, AGT, ACE, REN
50	creatinine32	8.0	AGTR1, AGT, ACE, REN

Cellular components related to renal tubular dysgenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic part	GO:044444	9.3	REN, AGT

Biological processes related to renal tubular dysgenesis according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	blood vessel remodeling	GO:001974	10.0	AGT
2	positive regulation of NAD(P)H oxidase activity	GO:033864	9.7	AGT, AGTR1
3	regulation of blood vessel size by renin-angiotensin	GO:002034	9.7	AGT, AGTR1
4	regulation of renal sodium excretion	GO:035813	9.7	AGT, AGTR1
5	positive regulation of cholesterol esterification	GO:010873	9.7	AGT, AGTR1
6	low-density lipoprotein particle remodeling	GO:034374	9.7	AGT, AGTR1
7	positive regulation of cellular protein metabolic process	GO:032270	9.6	AGT, AGTR1
8	positive regulation of macrophage derived foam cell differentiation	GO:010744	9.6	AGT, AGTR1
9	positive regulation of reactive oxygen species metabolic process	GO:2000379	9.6	AGT, AGTR1
10	phospholipase C-activating G-protein coupled receptor signaling pathway	GO:007200	9.5	AGTR1, AGT
11	regulation of renal output by angiotensin	GO:002019	9.4	AGT, ACE
12	positive regulation of inflammatory response	GO:050729	9.4	AGT, AGTR1
13	regulation of cell proliferation	GO:042127	9.4	AGT, AGTR1
14	regulation of systemic arterial blood pressure by renin-angiotensin	GO:003081	9.4	AGTR1, ACE
15	regulation of vasodilation	GO:042312	9.4	AGTR1, ACE
16	renin-angiotensin regulation of aldosterone production	GO:002018	9.1	AGTR1, AGT, REN
17	regulation of cell growth	GO:001558	9.1	AGTR1, AGT
18	regulation of blood pressure	GO:008217	8.9	REN, ACE
19	regulation of vasoconstriction	GO:019229	8.9	ACE, AGT, AGTR1
20	kidney development	GO:001822	8.3	AGTR1, AGT, ACE, REN

Molecular functions related to renal tubular dysgenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetyltransferase activator activity	GO:010698	9.1	AGT, AGTR1
2	bradykinin receptor binding	GO:031711	9.1	ACE, AGTR1